P39S (p.Pro39Ser) variant of ACVRL1 (Activin receptor type-1-like)
P39S (p.Pro39Ser) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
P39S (p.Pro39Ser) variant details
- p.Pro39Ser
- gnomAD 12-51913152-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.24
- CADD 9.39
- PolyPhen-2 0.02
- SIFT 0.98
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available